Mutagenetix > Incidental Mutation

Incidental Mutation 'R9333:Mfsd10'

711152

Institutional Source

Beutler Lab

Gene Symbol

Mfsd10

Ensembl Gene

ENSMUSG00000001082

Gene Name

major facilitator superfamily domain containing 10

Synonyms

0610009O03Rik, Tetran

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9333 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34790988-34794558 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34792427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 258 (V258A)

Ref Sequence

ENSEMBL: ENSMUSP00000001109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001108] [ENSMUST00000001109] [ENSMUST00000041364] [ENSMUST00000052836] [ENSMUST00000114329] [ENSMUST00000114331] [ENSMUST00000114335] [ENSMUST00000114338] [ENSMUST00000114340] [ENSMUST00000124668] [ENSMUST00000126257] [ENSMUST00000134156] [ENSMUST00000137150] [ENSMUST00000137506] [ENSMUST00000149657] [ENSMUST00000155577] [ENSMUST00000201147] [ENSMUST00000201810] [ENSMUST00000202378]

AlphaFold

Q9D2V8

Predicted Effect

probably benign
Transcript: ENSMUST00000001108

SMART Domains

Protein: ENSMUSP00000001108
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	599	631	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000001109
AA Change: V258A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001109
Gene: ENSMUSG00000001082
AA Change: V258A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.9e-41	PFAM
Pfam:Sugar_tr	62	235	7.9e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041364

SMART Domains

Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693

Domain	Start	End	E-Value	Type
Pfam:Nop14	21	849	2.2e-273	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000052836

SMART Domains

Protein: ENSMUSP00000052266
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	599	631	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114329
AA Change: V258A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109968
Gene: ENSMUSG00000001082
AA Change: V258A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.8e-41	PFAM
Pfam:Sugar_tr	71	228	2.3e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114331
AA Change: V258A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109970
Gene: ENSMUSG00000001082
AA Change: V258A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	413	6.8e-41	PFAM
Pfam:Sugar_tr	71	228	2.3e-9	PFAM
transmembrane domain	422	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114335

SMART Domains

Protein: ENSMUSP00000109974
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	597	629	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114338

SMART Domains

Protein: ENSMUSP00000109977
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	568	600	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114340

SMART Domains

Protein: ENSMUSP00000109979
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Aldolase_II	147	329	5.49e-58	SMART
coiled coil region	568	600	N/A	INTRINSIC
low complexity region	666	685	N/A	INTRINSIC
low complexity region	698	719	N/A	INTRINSIC
low complexity region	727	733	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124668

SMART Domains

Protein: ENSMUSP00000119140
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126257

SMART Domains

Protein: ENSMUSP00000144630
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	139	5.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134156

SMART Domains

Protein: ENSMUSP00000143812
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137150

SMART Domains

Protein: ENSMUSP00000120814
Gene: ENSMUSG00000001082

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000137506
AA Change: S108P

SMART Domains

Protein: ENSMUSP00000144121
Gene: ENSMUSG00000001082
AA Change: S108P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
transmembrane domain	31	50	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000149657
AA Change: V258A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118786
Gene: ENSMUSG00000001082
AA Change: V258A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	261	1.3e-26	PFAM
Pfam:Sugar_tr	71	228	9.3e-10	PFAM
Pfam:TRI12	76	232	3.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152805

SMART Domains

Protein: ENSMUSP00000121402
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
coiled coil region	95	127	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155577
AA Change: V258A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115204
Gene: ENSMUSG00000001082
AA Change: V258A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	29	269	1.1e-27	PFAM
Pfam:Sugar_tr	71	228	9.6e-10	PFAM
Pfam:TRI12	76	232	3.8e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000201147
AA Change: S83P

SMART Domains

Protein: ENSMUSP00000144239
Gene: ENSMUSG00000001082
AA Change: S83P

Domain	Start	End	E-Value	Type
low complexity region	80	95	N/A	INTRINSIC
low complexity region	104	130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201810

SMART Domains

Protein: ENSMUSP00000144673
Gene: ENSMUSG00000029106

Domain	Start	End	E-Value	Type
coiled coil region	142	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202065

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202378
AA Change: V78A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144117
Gene: ENSMUSG00000001082
AA Change: V78A

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
transmembrane domain	24	43	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	G	T	4: 123,754,416 (GRCm39)	G110V	probably benign	Het
Abraxas1	T	C	5: 100,959,939 (GRCm39)	S138G	probably damaging	Het
Aldoart1	C	T	4: 72,770,367 (GRCm39)	R147H	probably benign	Het
Arfgef1	C	A	1: 10,222,037 (GRCm39)	E1556*	probably null	Het
Arhgap39	C	T	15: 76,619,325 (GRCm39)	R753H	probably damaging	Het
Asb2	G	A	12: 103,311,955 (GRCm39)	Q56*	probably null	Het
Atp8b3	T	C	10: 80,360,180 (GRCm39)	I964V	probably benign	Het
Baiap3	C	A	17: 25,467,676 (GRCm39)	R338L	possibly damaging	Het
Clcn4	T	A	7: 7,292,192 (GRCm39)	M540L	probably damaging	Het
Crbn	T	C	6: 106,776,984 (GRCm39)	H12R	probably benign	Het
D6Wsu163e	A	G	6: 126,952,096 (GRCm39)	Y530C	probably damaging	Het
Dolpp1	T	A	2: 30,287,140 (GRCm39)	F191I	probably damaging	Het
Fam217a	T	C	13: 35,100,876 (GRCm39)	T94A	probably benign	Het
Fanci	T	C	7: 79,067,594 (GRCm39)	W347R	possibly damaging	Het
Fbxo39	A	T	11: 72,208,349 (GRCm39)	N234Y	probably damaging	Het
Fbxo4	A	G	15: 3,998,502 (GRCm39)	S319P	probably benign	Het
Gm14403	A	G	2: 177,200,919 (GRCm39)	N46S	probably benign	Het
Grm2	C	A	9: 106,525,416 (GRCm39)	R433L	possibly damaging	Het
Gtf2i	C	T	5: 134,271,840 (GRCm39)	D855N	probably benign	Het
Hcn2	T	A	10: 79,561,991 (GRCm39)	M329K	possibly damaging	Het
Hsd3b3	T	C	3: 98,649,216 (GRCm39)	D369G	probably benign	Het
Kctd12	T	C	14: 103,219,054 (GRCm39)	K275E	probably damaging	Het
Klra4	T	A	6: 130,021,080 (GRCm39)	K238N	probably damaging	Het
Kremen2	T	A	17: 23,962,775 (GRCm39)	T104S	probably damaging	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Mageb3	A	T	2: 121,784,973 (GRCm39)	V243E	probably damaging	Het
Myh10	A	C	11: 68,680,980 (GRCm39)	Q1007P	probably benign	Het
Ndufaf5	A	G	2: 140,035,513 (GRCm39)	E243G	probably benign	Het
Or2ag16	T	C	7: 106,351,782 (GRCm39)	D271G	probably damaging	Het
Orm3	T	C	4: 63,274,528 (GRCm39)	I31T	probably damaging	Het
Pgm2	C	A	5: 64,263,100 (GRCm39)	T249K	probably benign	Het
Prcp	T	C	7: 92,577,894 (GRCm39)	Y388H	probably damaging	Het
Prmt3	T	G	7: 49,456,308 (GRCm39)	I306M	probably damaging	Het
Rag2	A	T	2: 101,460,752 (GRCm39)	D354V	probably benign	Het
Reep1	A	G	6: 71,772,198 (GRCm39)	D162G	probably damaging	Het
Rnpep	A	T	1: 135,191,862 (GRCm39)	W575R	probably damaging	Het
Rpl28	T	C	7: 4,796,079 (GRCm39)		probably benign	Het
Ryr1	A	C	7: 28,774,214 (GRCm39)		probably null	Het
Spg11	G	A	2: 121,932,244 (GRCm39)	R533C	probably damaging	Het
Tcf7l2	C	A	19: 55,919,928 (GRCm39)	S487*	probably null	Het
Usp39	T	C	6: 72,314,710 (GRCm39)	N232S	probably benign	Het
Vmn2r26	C	T	6: 124,003,009 (GRCm39)	P140S	probably benign	Het
Vmn2r34	C	T	7: 7,675,367 (GRCm39)	V674I	probably benign	Het

Other mutations in Mfsd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
E0374:Mfsd10	UTSW	5	34,793,981 (GRCm39)	splice site	probably null
R0226:Mfsd10	UTSW	5	34,791,790 (GRCm39)	missense	probably benign	0.03
R0265:Mfsd10	UTSW	5	34,792,507 (GRCm39)	splice site	probably benign
R1803:Mfsd10	UTSW	5	34,794,094 (GRCm39)	missense	possibly damaging	0.81
R4235:Mfsd10	UTSW	5	34,792,969 (GRCm39)	missense	probably damaging	0.99
R4782:Mfsd10	UTSW	5	34,792,293 (GRCm39)	intron	probably benign
R5861:Mfsd10	UTSW	5	34,791,588 (GRCm39)	unclassified	probably benign
R6781:Mfsd10	UTSW	5	34,791,853 (GRCm39)	missense	possibly damaging	0.71
R7381:Mfsd10	UTSW	5	34,793,770 (GRCm39)	missense	probably damaging	1.00
R7846:Mfsd10	UTSW	5	34,793,456 (GRCm39)	nonsense	probably null
R9036:Mfsd10	UTSW	5	34,792,751 (GRCm39)	missense	probably benign	0.04
R9124:Mfsd10	UTSW	5	34,791,940 (GRCm39)	missense	probably benign	0.00
R9356:Mfsd10	UTSW	5	34,794,048 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGATGTGCCAGGAAGCTGAG -3'
(R):5'- TGCTAACATCACAACACCTCTTGG -3'

Sequencing Primer
(F):5'- TGTACTCCAGGCCTGAGAACAG -3'
(R):5'- GGTTTCTGGGATCTGACAGGTCC -3'

Posted On

2022-05-16